{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1299396",
  "communityStandardTitle": [
    "NM_000963.4(PTGS2):c.1759G>A (p.Gly587Arg)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3689210",
        "active": true,
        "id": "COSM3689210"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3689211",
        "active": true,
        "id": "COSM3689211"
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-186643541-C-T",
        "id": "1-186643541-C-T",
        "variant": "1:186643541 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.186643541C>T?assembly=hg19",
        "id": "chr1:g.186643541C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.186674409C>T?assembly=hg38",
        "id": "chr1:g.186674409C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/3218625",
        "rs": 3218625
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-186643541-C-T?dataset=gnomad_r2_1",
        "id": "1-186643541-C-T",
        "variant": "1:186643541 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-186674409-C-T?dataset=gnomad_r3",
        "id": "1-186674409-C-T",
        "variant": "1:186674409 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-186674409-C-T?dataset=gnomad_r4",
        "id": "1-186674409-C-T",
        "variant": "1:186674409 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 186674409,
          "referenceAllele": "C",
          "start": 186674408
        }
      ],
      "hgvs": [
        "NC_000001.11:g.186674409C>T",
        "CM000663.2:g.186674409C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 186643541,
          "referenceAllele": "C",
          "start": 186643540
        }
      ],
      "hgvs": [
        "NC_000001.10:g.186643541C>T",
        "CM000663.1:g.186643541C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 184910164,
          "referenceAllele": "C",
          "start": 184910163
        }
      ],
      "hgvs": [
        "NC_000001.9:g.184910164C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11019,
          "referenceAllele": "G",
          "start": 11018
        }
      ],
      "hgvs": [
        "NG_028206.2:g.11019G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004129"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1892,
          "referenceAllele": "G",
          "start": 1891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009605",
      "geneNCBI_id": 5743,
      "geneSymbol": "PTGS2",
      "hgvs": [
        "ENST00000367468.10:c.1759G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356438.5:p.Gly587Arg",
        "hgvsWellDefined": "ENSP00000356438.5:p.Gly587Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750021",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367468.10:c.1759G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000963.4:c.1759G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356438.5:p.Gly587Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000954.1:p.Gly587Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2091,
          "referenceAllele": "G",
          "start": 2090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009605",
      "geneNCBI_id": 5743,
      "geneSymbol": "PTGS2",
      "hgvs": [
        "ENST00000680451.1:c.1759G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506242.1:p.Gly587Arg",
        "hgvsWellDefined": "ENSP00000506242.1:p.Gly587Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780068"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1888,
          "referenceAllele": "G",
          "start": 1887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009605",
      "geneNCBI_id": 5743,
      "geneSymbol": "PTGS2",
      "hgvs": [
        "ENST00000681605.1:c.*1431G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504900.1:n.*1431G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781211"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1896,
          "referenceAllele": "G",
          "start": 1895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009605",
      "geneNCBI_id": 5743,
      "geneSymbol": "PTGS2",
      "hgvs": [
        "ENST00000367468.9:c.1759G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356438.5:p.Gly587Arg",
        "hgvsWellDefined": "ENSP00000356438.5:p.Gly587Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266406"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2174,
          "referenceAllele": "G",
          "start": 2173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009605",
      "geneNCBI_id": 5743,
      "geneSymbol": "PTGS2",
      "hgvs": [
        "ENST00000490885.6:n.2174G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS328610"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1649,
          "referenceAllele": "G",
          "start": 1648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009605",
      "geneNCBI_id": 5743,
      "geneSymbol": "PTGS2",
      "hgvs": [
        "ENST00000559627.1:c.1649G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454130.1:n.1649G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374731"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063878967",
      "coordinates": [
        {
          "allele": "A",
          "end": 1896,
          "referenceAllele": "G",
          "start": 1895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009605",
      "geneNCBI_id": 5743,
      "geneSymbol": "PTGS2",
      "hgvs": [
        "NM_000963.3:c.1759G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000954.1:p.Gly587Arg",
        "hgvsWellDefined": "NP_000954.1:p.Gly587Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006986"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063878967",
      "coordinates": [
        {
          "allele": "A",
          "end": 1892,
          "referenceAllele": "G",
          "start": 1891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009605",
      "geneNCBI_id": 5743,
      "geneSymbol": "PTGS2",
      "hgvs": [
        "NM_000963.4:c.1759G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000954.1:p.Gly587Arg",
        "hgvsWellDefined": "NP_000954.1:p.Gly587Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662674",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367468.10:c.1759G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000963.4:c.1759G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356438.5:p.Gly587Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000954.1:p.Gly587Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}